Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.

The Journal of molecular diagnostics : JMD - 1 Nov 2017

Hayward Bruce E, Usdin Karen

Abstract excerpt

The learning disability fragile X syndrome results from the presence of >200 CGG/CCG repeats in exon 1 of the X-linked gene FMR1. Such alleles arise by expansion from maternally transmitted FMR1 premutation alleles, alleles having 55 to 200 repeats. Expansion risk is directly related to maternal repeat number. However, AGG interruptions to the repeat tract are important modifiers of expansion risk. Thus, the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Fragile X Mental Retardation Protein
Share to Fragile X Syndrome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Counseling

Share to Heterozygote

Share to Mosaicism

Share to Polymerase Chain Reaction

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 28818679
DOI: 10.1016/j.jmoldx.2017.06.008
PMCID: PMC5807927

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.PMID 28818679Read ↗

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.Semantic proximity Read ↗

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Semantic proximity Read ↗

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.Semantic proximity Read ↗

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.Semantic proximity Read ↗

The role of AGG interruptions in the transcription of FMR1 premutation alleles.Semantic proximity Read ↗

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.Semantic proximity Read ↗

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome.Semantic proximity Read ↗

Refining reproductive risk for FMR1 premutation carriers in the general obstetric population.Semantic proximity Read ↗

Single-tube methylation-specific duplex-PCR assay for rapid and accurate diagnosis of Fragile X Mental Retardation 1-related disorders.Semantic proximity Read ↗

Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.Semantic proximity Read ↗

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.Semantic proximity Read ↗

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.